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Guardian hands foundation

1 in 10 Americans, is affected by Rare Diseases. 30 million people in the United States alone, and 300 million people globally.

​ Characteristics of rare diseases

Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. The National Institute of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.​ Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment.

Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

​ Common problems faced

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. While individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined. It is estimated that 95% of all rare diseases do not have a single FDA approved drug treatment, and there are currently less than 400 treatments approved by the FDA for the nearly 7000 rare diseases which have been identified. According to estimates from the NIH, it will take 10,000 years at the current rate of FDA drug approvals to find therapies for all people suffering from rare and genetic diseases. ​

​ How can things change?

​​ Although rare disease patients and their families face many challenges, enormous progress is being made every day. The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

​ However, the road ahead is long with much progress to be made.​ ​ Joining together can help patients and their families find common solutions for care and remind them they are not alone. ​